What factors influence the age at diagnosis of hemophilia? Result of a French cohort study

Centre de Traitement des Hémophiles, Service de Pédiatrie et d'Hématologie Pédiatrique, Hôpital d'enfants La Timone, Assistance Publique Hôpitaux de Marseille, Inserm EMI 0214, Paris, France.
Journal of Pediatrics (Impact Factor: 3.79). 11/2002; 141(4):548-52. DOI: 10.1067/mpd.2002.128115
Source: PubMed


The diagnosis of hemophilia was reported as delayed in historic studies. We therefore investigated this issue to provide current epidemiologic data in a large series of patients.
The French cohort provided the opportunity to investigate the age at diagnosis and the circumstances of diagnosis in 599 individuals with hemophilia born between 1980 and 1994. The type and the severity of hemophilia, the family history, and the period of birth were analyzed as potential modifying factors.
The median age at diagnosis was 7.7 months, with significant differences among subgroups: 5.8 months in severe hemophilia, 9.0 months in moderate forms, 28.6 months in mild forms, 0.4 months in the case of hemophilic brothers, and 10.1 months in de novo hemophilia, which accounted for 55.3% of cases. In severe forms we observed a trend for earlier diagnosis throughout 3 consecutive periods from 1980 to 1994. Of bleeding episode, testing due to family history, or routine testing, bleeding was the main circumstance of diagnosis (59.9%).
Diagnosis was made earlier than in historic series, but it remained somewhat delayed. Early diagnosis will require efforts in the fields of genetic counseling and specific diagnosis of early bleeding, even without family history, because of the high incidence of de novo hemophilia.

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